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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Lymphedema-hypoparathyroidism syndrome
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Orphanet_1563 |
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Pierquin syndrome
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Orphanet_1566 |
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SEMD, MATN3-related
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Orphanet_156728 |
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Pettigrew Syndrome
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Orphanet_1568 |
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Fatal infantile COX deficiency
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Orphanet_1561 |
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Dyssegmental dysplasia, Rolland-Desbuquois type
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Orphanet_156731 |
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Anti-neutrophil cytoplasmic antibody-associated vasculitis
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Orphanet_156152 |
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Antineutrophil cytoplasmic antibody-associated vasculitis
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Orphanet_156152 |
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Otomandibular dysplasia associated with monogenic syndromes
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Orphanet_156202 |
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Rare genetic cause of hypertension
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Orphanet_156629 |
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Nose and cavum anomaly
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Orphanet_156246 |
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Fatal infantile cytochrome C oxidase deficiency
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Orphanet_1561 |
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Retinal ciliopathy due to mutation in Bardet-Biedl gene
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Orphanet_156183 |
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Retinal ciliopathy due to mutation in RP1 gene
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Orphanet_156168 |
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Retinal ciliopathy due to mutation in Usher gene
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Orphanet_156177 |
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